HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184439G>C , CM000679.2:g.42184439G>C | GRCh38 |
NC_000017.10:g.40336457G>C , CM000679.1:g.40336457G>C | GRCh37 |
NC_000017.9:g.37589983G>C | NCBI36 |
NG_011448.1:g.6014C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.111C>G MANE Select | ENSP00000293330.1:p.Pro37= | |
NM_001524.1:c.111C>G MANE Select | NP_001515.1:p.Pro37= |